Incidental Mutation 'IGL02860:Pan2'
ID362112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pan2
Ensembl Gene ENSMUSG00000005682
Gene NamePAN2 poly(A) specific ribonuclease subunit
SynonymsUsp52, 1200014O24Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02860
Quality Score
Status
Chromosome10
Chromosomal Location128303335-128321358 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 128310735 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 414 (R414*)
Ref Sequence ENSEMBL: ENSMUSP00000151874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005825] [ENSMUST00000218315] [ENSMUST00000219721]
Predicted Effect probably null
Transcript: ENSMUST00000005825
AA Change: R432*
SMART Domains Protein: ENSMUSP00000005825
Gene: ENSMUSG00000005682
AA Change: R432*

DomainStartEndE-ValueType
low complexity region 67 79 N/A INTRINSIC
SCOP:d1tbga_ 151 357 4e-11 SMART
Blast:WD40 225 271 4e-11 BLAST
low complexity region 412 425 N/A INTRINSIC
Pfam:UCH 515 920 2.6e-15 PFAM
Pfam:UCH_1 516 897 9.7e-70 PFAM
low complexity region 938 949 N/A INTRINSIC
EXOIII 972 1155 1.68e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218137
Predicted Effect probably null
Transcript: ENSMUST00000218315
AA Change: R432*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219255
Predicted Effect probably null
Transcript: ENSMUST00000219721
AA Change: R414*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219801
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A T 9: 90,191,862 M832L probably benign Het
Cars A T 7: 143,586,421 D99E probably damaging Het
Ccdc112 A G 18: 46,287,442 F414L probably benign Het
Chst15 C T 7: 132,269,102 V235I probably benign Het
Dysf G T 6: 84,190,898 probably null Het
Elavl2 T C 4: 91,260,953 D174G probably damaging Het
Gapdhs T A 7: 30,729,883 probably null Het
Gnb1l G A 16: 18,552,535 G259R probably damaging Het
Ighv9-2 T G 12: 114,109,237 I39L possibly damaging Het
Kntc1 T A 5: 123,769,873 N474K possibly damaging Het
Lrrc8c T C 5: 105,579,615 probably benign Het
Lyn C T 4: 3,745,594 A131V possibly damaging Het
Mindy2 T C 9: 70,656,544 E168G probably damaging Het
Morc2a T C 11: 3,661,821 probably benign Het
Naip6 T C 13: 100,300,476 Q513R possibly damaging Het
Nell1 A T 7: 50,848,485 I597F probably damaging Het
Nudt12 T A 17: 59,010,435 R72S probably benign Het
Rb1 T C 14: 73,206,012 R768G probably damaging Het
Rps6ka2 A G 17: 7,282,856 E440G possibly damaging Het
Serpinb3a C T 1: 107,049,453 probably benign Het
Stx8 C A 11: 67,984,565 T72K probably damaging Het
Tecrl A G 5: 83,354,997 F2L probably benign Het
Tmem263 C T 10: 85,114,552 T69I probably damaging Het
Ttc39b T C 4: 83,263,746 N49D probably benign Het
Ttn A G 2: 76,717,015 L32229P probably damaging Het
Zfp358 T C 8: 3,496,074 F219L probably damaging Het
Other mutations in Pan2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Pan2 APN 10 128312926 nonsense probably null
IGL02183:Pan2 APN 10 128309075 missense possibly damaging 0.74
IGL02219:Pan2 APN 10 128320352 missense probably benign 0.04
IGL02514:Pan2 APN 10 128310741 missense possibly damaging 0.94
IGL02552:Pan2 APN 10 128319027 missense probably damaging 1.00
IGL02623:Pan2 APN 10 128312899 missense probably benign
IGL03104:Pan2 APN 10 128315663 splice site probably benign
IGL03372:Pan2 APN 10 128315127 missense probably benign 0.09
R0541:Pan2 UTSW 10 128308222 missense possibly damaging 0.87
R0585:Pan2 UTSW 10 128310515 critical splice donor site probably null
R1079:Pan2 UTSW 10 128318238 missense probably damaging 0.99
R1650:Pan2 UTSW 10 128317899 missense probably damaging 1.00
R1847:Pan2 UTSW 10 128304378 missense possibly damaging 0.71
R1867:Pan2 UTSW 10 128313181 missense probably damaging 1.00
R1903:Pan2 UTSW 10 128308368 missense probably damaging 0.98
R1975:Pan2 UTSW 10 128320413 missense probably damaging 0.99
R1976:Pan2 UTSW 10 128320413 missense probably damaging 0.99
R1977:Pan2 UTSW 10 128320413 missense probably damaging 0.99
R2136:Pan2 UTSW 10 128313637 missense possibly damaging 0.95
R2162:Pan2 UTSW 10 128304222 missense possibly damaging 0.90
R2512:Pan2 UTSW 10 128304457 missense probably damaging 1.00
R2566:Pan2 UTSW 10 128313897 missense probably damaging 1.00
R2900:Pan2 UTSW 10 128308342 missense probably benign
R3957:Pan2 UTSW 10 128315177 missense probably damaging 0.99
R4571:Pan2 UTSW 10 128308643 missense probably benign 0.05
R5112:Pan2 UTSW 10 128315595 nonsense probably null
R5120:Pan2 UTSW 10 128314995 critical splice donor site probably null
R5183:Pan2 UTSW 10 128317969 missense probably damaging 1.00
R5325:Pan2 UTSW 10 128317634 missense possibly damaging 0.59
R5539:Pan2 UTSW 10 128308133 missense probably benign 0.16
R5642:Pan2 UTSW 10 128308100 missense probably benign 0.00
R5740:Pan2 UTSW 10 128308164 missense probably damaging 1.00
R5822:Pan2 UTSW 10 128320380 missense probably damaging 1.00
R6766:Pan2 UTSW 10 128314512 missense possibly damaging 0.79
R6902:Pan2 UTSW 10 128315637 missense probably benign 0.33
R6946:Pan2 UTSW 10 128315637 missense probably benign 0.33
R7206:Pan2 UTSW 10 128314545 nonsense probably null
R7490:Pan2 UTSW 10 128308440 missense probably benign 0.00
R7715:Pan2 UTSW 10 128317723 missense probably benign 0.00
R7794:Pan2 UTSW 10 128316527 splice site probably null
R8286:Pan2 UTSW 10 128318320 missense probably damaging 1.00
RF005:Pan2 UTSW 10 128315535 missense probably benign 0.00
RF024:Pan2 UTSW 10 128315535 missense probably benign 0.00
Z1177:Pan2 UTSW 10 128304410 missense possibly damaging 0.94
Z1177:Pan2 UTSW 10 128314499 missense probably damaging 0.97
Posted On2015-12-18